Variant report

Variant	rs530655031
Chromosome Location	chr4:130014703-130014704
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:454)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr4:130014508-130014985	HepG2	liver:	n/a	n/a
2	CEBPD	chr4:130014578-130014895	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:130014275-130015087	Gliobla	brain:	n/a	n/a
4	MXI1	chr4:130012946-130016268	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr4:130014288-130014979	HUVEC	blood vessel:	n/a	n/a
6	BRCA1	chr4:130014380-130014906	H1-hESC	embryonic stem cell:	n/a	n/a
7	SPI1	chr4:130014350-130014914	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:130014165-130015091	GM12878	blood:	n/a	n/a
9	FOS	chr4:130014596-130014942	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr4:130014362-130015083	ProgFib	skin:	n/a	n/a
11	POLR2A	chr4:130013816-130015128	GM19099	blood:	n/a	n/a
12	REST	chr4:130014239-130014792	PFSK-1	brain:	n/a	chr4:130014616-130014636 chr4:130014744-130014757
13	SIN3A	chr4:130014099-130015151	GM12878	blood:	n/a	chr4:130014674-130014687
14	POLR2A	chr4:130014302-130015026	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr4:130014245-130015106	NB4	blood:	n/a	n/a
16	POLR2A	chr4:130014164-130015109	MCF10A-Er-Src	breast:	n/a	n/a
17	RCOR1	chr4:130013827-130015269	K562	blood:	n/a	n/a
18	FOXM1	chr4:130014122-130015272	ECC-1	luminal epithelium:	n/a	n/a
19	STAT3	chr4:130014636-130014840	MCF10A-Er-Src	breast:	n/a	n/a
20	RCOR1	chr4:130013701-130015157	Hela-S3	cervix:	n/a	n/a
21	NFYB	chr4:130014560-130015280	K562	blood:	n/a	n/a
22	POLR2A	chr4:130014369-130014937	A549	lung:	n/a	n/a
23	SP4	chr4:130014281-130014857	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr4:130014170-130015120	MCF-7	breast:	n/a	n/a
25	FOXM1	chr4:130014014-130015358	ECC-1	luminal epithelium:	n/a	n/a
26	ATF3	chr4:130014505-130014936	A549	lung:	n/a	n/a
27	USF1	chr4:130014666-130014897	SK-N-SH_RA	brain:	n/a	n/a
28	SMC3	chr4:130014610-130015087	HepG2	liver:	n/a	n/a
29	PAX5	chr4:130014313-130014822	GM12891	blood:	n/a	n/a
30	SPI1	chr4:130014437-130014875	HL-60	blood:	n/a	n/a
31	EBF1	chr4:130013910-130015276	GM12878	blood:	n/a	n/a
32	TAF1	chr4:130014147-130015107	ECC-1	luminal epithelium:	n/a	n/a
33	TAF1	chr4:130014300-130014849	H1-hESC	embryonic stem cell:	n/a	n/a
34	BCLAF1	chr4:130014313-130014987	K562	blood:	n/a	chr4:130014626-130014639 chr4:130014891-130014900 chr4:130014631-130014640
35	POLR2A	chr4:130014398-130015040	HUVEC	blood vessel:	n/a	n/a
36	YY1	chr4:130014281-130014968	K562	blood:	n/a	n/a
37	GTF2F1	chr4:130014375-130015257	Hela-S3	cervix:	n/a	n/a
38	YY1	chr4:130014100-130014865	GM12878	blood:	n/a	chr4:130014210-130014219
39	POLR2A	chr4:130014291-130015043	ECC-1	luminal epithelium:	n/a	n/a
40	FOXM1	chr4:130014002-130015194	GM12878	blood:	n/a	n/a
41	SIN3AK20	chr4:130014098-130015074	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr4:130014079-130015126	GM19193	blood:	n/a	n/a
43	MYC	chr4:130014176-130014941	H1-hESC	embryonic stem cell:	n/a	n/a
44	STAT3	chr4:130014619-130014819	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT1	chr4:130014266-130015169	GM12878	blood:	n/a	n/a
46	HEY1	chr4:130014255-130014922	K562	blood:	n/a	n/a
47	CREB1	chr4:130014434-130015086	ECC-1	luminal epithelium:	n/a	n/a
48	JUND	chr4:130014231-130015085	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr4:130011739-130015326	IMR90	lung:	n/a	n/a
50	HMGN3	chr4:130014326-130014906	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:130014687-130014737	AG10803	skin:	n/a
2	chr4:130014699-130014749	AG09319	gingival:	n/a
3	chr4:130014687-130014737	HAEpiC	amniotic membrane:	n/a
4	chr4:130014699-130014749	NHDF-neo	bronchial:	n/a
5	chr4:130014699-130014749	HCPEpiC	choroid plexus:	n/a
6	chr4:130014699-130014749	AG04449	skin:	fetal
7	chr4:130014699-130014749	HNPCEpiC	eye:	n/a
8	chr4:130014687-130014737	HCT-116	colon:	n/a
9	chr4:130014687-130014737	K562	blood:	n/a
10	chr4:130014687-130014737	MCF-7	breast:	n/a
11	chr4:130014687-130014737	Jurkat	blood:	n/a
12	chr4:130014687-130014737	IMR90	lung:	fetal
13	chr4:130014699-130014749	SK-N-SH	brain:	n/a
14	chr4:130014687-130014737	Hepatocyte	liver:	n/a
15	chr4:130014699-130014749	K562	blood:	n/a
16	chr4:130014699-130014749	SKMC	muscle:	n/a
17	chr4:130014687-130014737	HUVEC	blood vessel:	n/a
18	chr4:130014687-130014737	MCF10A-Er-Src	breast:	n/a
19	chr4:130014687-130014737	HCM	heart:	n/a
20	chr4:130014687-130014737	NHDF-neo	bronchial:	n/a
21	chr4:130014687-130014737	GM12891	blood:	n/a
22	chr4:130014687-130014737	ECC-1	luminal epithelium:	n/a
23	chr4:130014699-130014749	HAEpiC	amniotic membrane:	n/a
24	chr4:130014687-130014737	NHBE	bronchial:	n/a
25	chr4:130014699-130014749	SAEC	small airway:	n/a
26	chr4:130014687-130014737	NB4	blood:	n/a
27	chr4:130014687-130014737	HRCEpiC	kidney:	n/a
28	chr4:130014687-130014737	HRPEpiC	eye:	n/a
29	chr4:130014699-130014749	PFSK-1	brain:	n/a
30	chr4:130014699-130014749	HEEpiC	esophagus:	n/a
31	chr4:130014687-130014737	HPAEpiC	pulmonary alveolar:	n/a
32	chr4:130014687-130014737	GM06990	blood:	n/a
33	chr4:130014687-130014737	ProgFib	skin:	n/a
34	chr4:130014699-130014749	HRCEpiC	kidney:	n/a
35	chr4:130014699-130014749	NT2-D1	testis:	n/a
36	chr4:130014687-130014737	PrEC	prostate:	n/a
37	chr4:130014699-130014749	Hela-S3	cervix:	n/a
38	chr4:130014699-130014749	HMEC	breast:	n/a
39	chr4:130014699-130014749	HPAEpiC	pulmonary alveolar:	n/a
40	chr4:130014687-130014737	U87	brain:	n/a
41	chr4:130014687-130014737	GM12878	blood:	n/a
42	chr4:130014687-130014737	HNPCEpiC	eye:	n/a
43	chr4:130014699-130014749	PrEC	prostate:	n/a
44	chr4:130014687-130014737	SK-N-SH_RA	brain:	n/a
45	chr4:130014687-130014737	AG09309	skin:	n/a
46	chr4:130014687-130014737	HRE	kidney:	n/a
47	chr4:130014699-130014749	MCF10A-Er-Src	breast:	n/a
48	chr4:130014699-130014749	HCF	heart:	n/a
49	chr4:130014687-130014737	PFSK-1	brain:	n/a
50	chr4:130014687-130014737	BE2_C	brain:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:160231636..160232491-chr4:130014484..130015051,2	Hela-S3	cervix:
2	chr3:57741752..57742372-chr4:130014273..130014863,2	HCT-116	colon:
3	chr4:128703531..128705249-chr4:130014655..130017577,2	K562	blood:
4	chr1:113161412..113162381-chr4:130014290..130014835,2	Hela-S3	cervix:
5	chr4:130012621..130015537-chr4:130015842..130017627,2	K562	blood:
6	chr4:129730340..129733748-chr4:130013373..130016609,5	K562	blood:

No data

Variant related genes	Relation type
SCLT1	TF binding region
C4orf33	TF binding region
SCLT1	CpG island
C4orf33	CpG island
ENSG00000163681	Chromatin interaction
ENSG00000132716	Chromatin interaction
ENSG00000151470	Chromatin interaction
ENSG00000164070	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv822718	chr4:130014371-130014826	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130011200-130016000	Active TSS	NHLF	lung
2	chr4:130011200-130016400	Active TSS	GM12878-XiMat	blood
3	chr4:130012000-130015000	Active TSS	NHDF-Ad	bronchial
4	chr4:130012200-130015400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:130012200-130015400	Active TSS	A549	lung
6	chr4:130012400-130015800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:130012600-130015800	Active TSS	Brain Hippocampus Middle	brain
8	chr4:130012800-130015400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr4:130012800-130015400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:130012800-130015400	Active TSS	Fetal Muscle Trunk	muscle
11	chr4:130012800-130015400	Active TSS	HMEC	breast
12	chr4:130012800-130015600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:130012800-130018600	Active TSS	K562	blood
14	chr4:130013000-130014800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:130013000-130015000	Active TSS	Rectal Smooth Muscle	rectum
16	chr4:130013000-130015000	Active TSS	Hela-S3	cervix
17	chr4:130013000-130015200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr4:130013000-130015200	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr4:130013000-130015400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:130013000-130015400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:130013000-130015400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:130013000-130015400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr4:130013200-130015000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:130013200-130015200	Active TSS	Esophagus	oesophagus
25	chr4:130013200-130015200	Active TSS	Fetal Kidney	kidney
26	chr4:130013200-130015400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr4:130013200-130015400	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr4:130013200-130015400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:130013200-130015400	Active TSS	Aorta	Aorta
30	chr4:130013200-130015400	Active TSS	Brain Cingulate Gyrus	brain
31	chr4:130013200-130015400	Active TSS	Colon Smooth Muscle	Colon
32	chr4:130013200-130015400	Active TSS	Fetal Stomach	stomach
33	chr4:130013200-130015600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr4:130013400-130015200	Active TSS	H1 Cell Line	embryonic stem cell
35	chr4:130013400-130015200	Active TSS	Placenta	Placenta
36	chr4:130013400-130015200	Active TSS	Pancreas	Pancrea
37	chr4:130013400-130015200	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr4:130013400-130015200	Active TSS	HSMMtube	muscle
39	chr4:130013400-130015400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:130013400-130015400	Active TSS	Colonic Mucosa	Colon
41	chr4:130013400-130015400	Active TSS	Fetal Intestine Large	intestine
42	chr4:130013400-130015400	Active TSS	Psoas Muscle	Psoas
43	chr4:130013400-130015400	Active TSS	Right Atrium	heart
44	chr4:130013400-130015400	Active TSS	Right Ventricle	heart
45	chr4:130013400-130015400	Active TSS	Thymus	Thymus
46	chr4:130013400-130015600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:130013400-130015600	Active TSS	Fetal Muscle Leg	muscle
48	chr4:130013400-130015800	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr4:130013600-130015000	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr4:130013600-130015000	Active TSS	Fetal Lung	lung

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